A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765104



Internal ID1766920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52784..63385hg38UCSC Ensembl
Innerchr5:52834..63335hg38UCSC Ensembl
Outerchr5:52734..63435hg38UCSC Ensembl
chr5:52899..63500hg19UCSC Ensembl
Innerchr5:52949..63450hg19UCSC Ensembl
Outerchr5:52849..63550hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3810602
hg1910602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603724
Supporting Variants
SamplesHG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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